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. 2011 Oct;155A(10):2453-8.
doi: 10.1002/ajmg.a.34225. Epub 2011 Sep 9.

Did the GJB2 35delG mutation originate in Iran?

Vahideh Norouzi  1 , Hiva Azizi, Zohreh Fattahi, Fatemehsadat Esteghamat, Niloofar Bazazzadegan, Carla Nishimura, Nooshin Nikzat, Khadijeh Jalalvand, Kimia Kahrizi, Richard J H Smith, Hossein Najmabadi
Affiliations

Did the GJB2 35delG mutation originate in Iran?

Vahideh Norouzi et al. Am J Med Genet A. 2011 Oct.

Abstract

Mutations in GJB2 are a major cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of GJB2 mutations that are associated with ARNSHL in Caucasians in many European countries and also in Iranian. In this study, we used PCR and restriction digestion to genotype five single nucleotide polymorphisms (SNPs) that define the genetic background of the 35delG mutation over an interval of 98 Kbp that includes the coding and flanking regions of GJB2. Two microsatellite markers, D13S175 and D13S141, were also analyzed in patients and controls. These data suggest that the 35delG mutation originated in northern Iran.

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Figures

Figure 1
Figure 1
SNPs and STRs located near and within GJB2.
Figure 2
Figure 2
Restriction digests to resolve SNPs 1-5 (Hom: homozygous for the mentioned SNP; N: SNP wild type; M: marker).
Figure 3
Figure 3
GJB2-related deafness of studied in the Middle East.
Figure 4
Figure 4
Journey of mankind presented by Bradshow Foundation (http://www.bradshawfoundation.com/journey/). The red color shows the migration path from Iran to Europe.
See this image and copyright information in PMC

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